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Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of … necessary to detect it early and if necessary treat with thyroid replacement Older or over-weight women with Turner … have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… analyses on 279 tumors - head and neck squamous cell carcinomas (HNSCC) - from untreated patients. Approximately … use in most patients. Some 90 percent are squamous cell carcinomas, which occur in the surface layers of cells in the … genomic characterization of head and neck squamous cell carcinomas , Nature. Online January 28, 2015. DOI: …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… which is sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… skin cancer and cancer of the colon, rectum, ovary and thyroid. Coauthors of the paper in the March 12, 2015, …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… Types NIH Researchers Use Genomics to Set Squamous Cell Carcinomas Apart from Other Cancers NIH Researchers Crack …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Klubo-Gwiezdzinska J (*Co-First Authors). Assessment of Thyroid Function in Patients with Alkaptonuria . JAMA Netw …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute. ​
… of novel genetic models to dissect resistance to thyroid hormone receptor a in zebrafish . Thyroid 30 (2):314-328. 2020. McElderry J, Carrington B, …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.